{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139766055",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 300,
          "referenceAllele": "P",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014198",
      "geneNCBI_id": 60528,
      "geneSymbol": "ELAC2",
      "hgvs": [
        "NP_776065.1:p.Pro300del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16620332",
          "hgvs": "NM_173717.2:c.897_899del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183518"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=409829[alleleid]",
        "alleleId": 409829,
        "preferredName": "NM_018127.7(ELAC2):c.894TCC[1] (p.Pro300del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/423989",
        "RCV": [
          "RCV000487244"
        ],
        "variationId": 423989
      }
    ]
  },
  "type": "amino-acid"
}